ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as pathogenic for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NC_000020.10:g.(?_43280196)_(43280268_?)del
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.95+1G>A rs778343059

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